Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTNAP2_chr7_146111801_148425998	147041572	A A	AATTTGCC others(2): Show AATTTGCCTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02922.hp1 HG01891.hp2 HG02486.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0012 a0001c0003t0011 a0001c0001t0006 a0001c0001t0012 a0001c0003t0011	a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0003t0011g0023 a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0003t0011g0023	3	40	0.0750	9	c.403 others(26): Show c.403-2331_403-2323dupTGCCTGATT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147102282	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG03139.hp1 others(4): Show HG02630.hp1 HG02717.hp1 HG03139.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0001c0013 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0003t0023 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0003t0023 a0001c0008t0001 a0001c0012t0004 a0001c0013t0003 a0002c0016t0004 a0002c0017t0015	a0001c0001t0001g0038 a0001c0003t0023g0030 a0001c0008t0001g0025 others(4): Show a0001c0001t0001g0038 a0001c0003t0023g0030 a0001c0008t0001g0025 a0001c0012t0004g0026 a0001c0013t0003g0039 a0002c0016t0004g0024 a0002c0017t0015g0037	7	40	0.1750	9	c.551 others(26): Show c.551-5858_551-5850dupAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147170574	C C	CTTCTGAG others(2): Show CTTCTGAGTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01891.hp1 others(25): Show HG00735.hp1 HG00735.hp2 HG01891.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0015 a0001c0018 a0001c0019 a0002c0016 a0002c0017 a0004c0014 a0005c0020	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(21): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0004 a0001c0003t0011 a0001c0003t0020 a0001c0003t0023 a0001c0004t0005 a0001c0005t0022 a0001c0006t0009 a0001c0006t0014 a0001c0008t0001 a0001c0010t0002 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0016t0004 a0002c0017t0015 a0004c0014t0021 a0005c0020t0005	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0007g0018 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0003t0004g0029 a0001c0003t0011g0023 a0001c0003t0020g0017 a0001c0003t0023g0030 a0001c0004t0005g0004 a0001c0005t0022g0032 a0001c0006t0009g0028 a0001c0006t0014g0033 a0001c0008t0001g0025 a0001c0010t0002g0014 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0016t0004g0024 a0002c0017t0015g0037 a0004c0014t0021g0022 a0005c0020t0005g0016	28	40	0.7000	9	c.134 others(30): Show c.1348+38073_1348+38074insTTTCTGAGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147242987	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG02976.hp2 HG01891.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0012 a0001c0003t0020 a0001c0001t0006 a0001c0001t0012 a0001c0003t0020	a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0003t0020g0017 a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0003t0020g0017	3	40	0.0750	9	c.134 others(30): Show c.1349-57133_1349-57125dupTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147249604	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02976.hp2 others(3): Show HG01891.hp1 HG02486.hp1 HG02976.hp2 HG03098.hp2 HG03540.hp2 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0016 a0004c0014	a0001c0001t0007 a0001c0002t0001 a0001c0003t0004 others(3): Show a0001c0001t0007 a0001c0002t0001 a0001c0003t0004 a0001c0003t0020 a0002c0016t0004 a0004c0014t0021	a0001c0001t0007g0020 a0001c0002t0001g0021 a0001c0003t0004g0029 others(3): Show a0001c0001t0007g0020 a0001c0002t0001g0021 a0001c0003t0004g0029 a0001c0003t0020g0017 a0002c0016t0004g0024 a0004c0014t0021g0022	6	40	0.1500	9	c.134 others(30): Show c.1349-50524_1349-50516dupAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147762794	G G	GAGGAAGG others(2): Show GAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG02630.hp1 others(6): Show HG00735.hp2 HG02486.hp1 HG02630.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0008 others(5): Show a0001c0001 a0001c0005 a0001c0008 a0001c0012 a0001c0015 a0001c0018 a0001c0019 a0002c0016	a0001c0001t0001 a0001c0001t0007 a0001c0005t0022 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0005t0022 a0001c0008t0001 a0001c0012t0004 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0016t0004	a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0005t0022g0032 others(6): Show a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0005t0022g0032 a0001c0008t0001g0025 a0001c0012t0004g0026 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0016t0004g0024	9	40	0.2250	9	c.209 others(32): Show c.2098+123503_2098+123511dupGGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147762809	G G	GGGAAGGA others(2): Show GGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0016 a0001c0002t0001 a0001c0011t0016	a0001c0002t0001g0007 a0001c0011t0016g0019 a0001c0002t0001g0007 a0001c0011t0016g0019	2	40	0.0500	9	c.209 others(32): Show c.2098+123509_2098+123517dupGAAAGGAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148222557	T T	TCTATGAA others(2): Show TCTATGAATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03239.hp2 HG03098.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0021 a0001c0002t0002g0040 a0001c0002t0001g0021 a0001c0002t0002g0040	2	40	0.0500	9	c.324 others(28): Show c.3247+5034_3247+5035insTATGAATAC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148324794	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02630.hp1 others(7): Show HG01891.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG03225.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0018	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0013 a0001c0003t0023 a0001c0005t0008 a0001c0012t0004 a0001c0018t0002	a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0002t0001g0008 others(7): Show a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0002t0001g0008 a0001c0002t0002g0013 a0001c0002t0010g0002 a0001c0003t0013g0010 a0001c0003t0023g0030 a0001c0005t0008g0005 a0001c0012t0004g0026 a0001c0018t0002g0012	10	40	0.2500	9	c.347 others(30): Show c.3475+57673_3475+57681dupAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148339256	C C	CCAAACAT others(2): Show CCAAACATCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02922.hp1 HG00735.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0012 a0001c0019t0006 a0001c0001t0012 a0001c0019t0006	a0001c0001t0012g0034 a0001c0019t0006g0015 a0001c0001t0012g0034 a0001c0019t0006g0015	2	40	0.0500	9	c.347 others(30): Show c.3476-44393_3476-44392insCAAACATCG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148363844	T T	TGCGTGCG others(2): Show TGCGTGCGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG02896.hp2 others(7): Show HG02717.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0004 a0001c0009 others(5): Show a0001c0002 a0001c0004 a0001c0009 a0001c0011 a0001c0015 a0002c0017 a0003c0007 a0005c0020	a0001c0002t0002 a0001c0004t0003 a0001c0004t0005 others(6): Show a0001c0002t0002 a0001c0004t0003 a0001c0004t0005 a0001c0009t0019 a0001c0011t0016 a0001c0015t0001 a0002c0017t0015 a0003c0007t0017 a0005c0020t0005	a0001c0002t0002g0040 a0001c0004t0003g0035 a0001c0004t0003g0036 others(7): Show a0001c0002t0002g0040 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0009t0019g0027 a0001c0011t0016g0019 a0001c0015t0001g0011 a0002c0017t0015g0037 a0003c0007t0017g0031 a0005c0020t0005g0016	10	40	0.2500	9	c.347 others(30): Show c.3476-19797_3476-19796insCGCGTGCGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148363850	C C	CGGCGCGT others(2): Show CGGCGCGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02451.hp2 HG00735.hp2 HG01891.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0002 a0001c0001t0006 a0001c0019t0006 a0001c0001t0002 a0001c0001t0006 a0001c0019t0006	a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0019t0006g0015 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0019t0006g0015	3	40	0.0750	9	c.347 others(30): Show c.3476-19797_3476-19796insCGCGTGTGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148369643	C C	CATTATTA others(2): Show CATTATTATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02976.hp1 others(2): Show HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0001c0015 a0002c0017	a0001c0002t0002 a0001c0003t0013 a0001c0011t0016 others(2): Show a0001c0002t0002 a0001c0003t0013 a0001c0011t0016 a0001c0015t0001 a0002c0017t0015	a0001c0002t0002g0040 a0001c0003t0013g0010 a0001c0011t0016g0019 others(2): Show a0001c0002t0002g0040 a0001c0003t0013g0010 a0001c0011t0016g0019 a0001c0015t0001g0011 a0002c0017t0015g0037	5	40	0.1250	9	c.347 others(30): Show c.3476-13977_3476-13969dupTTATTATTA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148387885	A A	AGAAGCCA others(2): Show AGAAGCCAGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02922.hp1 others(1): Show HG00735.hp2 HG01891.hp2 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0006 a0001c0001t0012 a0001c0002t0010 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0002t0010 a0001c0019t0006	a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0010g0002 others(1): Show a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0010g0002 a0001c0019t0006g0015	4	40	0.1000	9	c.371 others(28): Show c.3715+3998_3715+4006dupGAAGCCAGC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41937114	T T	TTTATTAT others(2): Show TTTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(22): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01255.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02135.hp2 HG02145.hp1 HG02273.hp1 HG02622.hp1 HG02738.hp2 HG02922.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 NA18949.hp1 NA18949.hp2 NA18968.hp2 NA18974.hp2 NA18998.hp1 NA19086.hp1	a0002 a0004 a0011 others(4): Show a0002 a0004 a0011 a0012 a0016 a0017 a0019	a0002c0002 a0002c0010 a0002c0015 others(9): Show a0002c0002 a0002c0010 a0002c0015 a0002c0020 a0002c0023 a0004c0004 a0011c0037 a0011c0040 a0012c0022 a0016c0017 a0017c0014 a0019c0031	a0002c0002t0001 a0002c0002t0012 a0002c0002t0024 others(11): Show a0002c0002t0001 a0002c0002t0012 a0002c0002t0024 a0002c0010t0001 a0002c0015t0001 a0002c0020t0001 a0002c0023t0001 a0004c0004t0005 a0011c0037t0007 a0011c0040t0007 a0012c0022t0001 a0016c0017t0001 a0017c0014t0001 a0019c0031t0028	a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 others(22): Show a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0012g0043 a0002c0002t0012g0051 a0002c0002t0024g0061 a0002c0010t0001g0057 a0002c0010t0001g0058 a0002c0015t0001g0046 a0002c0020t0001g0060 a0002c0023t0001g0054 a0004c0004t0005g0032 a0011c0037t0007g0008 a0011c0040t0007g0003 a0012c0022t0001g0055 a0016c0017t0001g0042 a0017c0014t0001g0038 a0019c0031t0028g0088	25	108	0.2315	9	c.223 others(28): Show c.2237+1121_2237+1129dupTAATAATAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41981892	C C	CAATAATA others(2): Show CAATAATAAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01516.hp1 HG01934.hp1 others(10): Show HG01175.hp2 HG01516.hp1 HG01934.hp1 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02738.hp1 HG03041.hp2 HG03486.hp1 NA18949.hp2 NA18968.hp2 NA19030.hp1 NA19086.hp2	a0004 a0005 a0006 others(6): Show a0004 a0005 a0006 a0007 a0011 a0017 a0022 a0023 a0028	a0004c0004 a0005c0005 a0006c0007 others(8): Show a0004c0004 a0005c0005 a0006c0007 a0007c0009 a0007c0016 a0011c0037 a0011c0040 a0017c0014 a0022c0030 a0023c0028 a0028c0027	a0004c0004t0005 a0005c0005t0006 a0005c0005t0030 others(9): Show a0004c0004t0005 a0005c0005t0006 a0005c0005t0030 a0006c0007t0011 a0007c0009t0025 a0007c0016t0001 a0011c0037t0007 a0011c0040t0007 a0017c0014t0001 a0022c0030t0006 a0023c0028t0006 a0028c0027t0005	a0004c0004t0005g0032 a0005c0005t0006g0073 a0005c0005t0006g0076 others(10): Show a0004c0004t0005g0032 a0005c0005t0006g0073 a0005c0005t0006g0076 a0005c0005t0030g0092 a0006c0007t0011g0017 a0007c0009t0025g0037 a0007c0016t0001g0036 a0011c0037t0007g0008 a0011c0040t0007g0003 a0017c0014t0001g0038 a0022c0030t0006g0085 a0023c0028t0006g0084 a0028c0027t0005g0033	13	108	0.1204	9	c.147 others(28): Show c.1477+4267_1477+4275dupATTATTATT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030802	A A	AGAGAGAG others(2): Show AGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG03490.hp1 others(1): Show HG00280.hp2 HG01175.hp2 HG03490.hp1 NA19090.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0029 a0004c0004t0005g0031 a0004c0004t0005g0032 others(1): Show a0004c0004t0005g0029 a0004c0004t0005g0031 a0004c0004t0005g0032 a0004c0004t0005g0034	4	108	0.0370	9	c.391 others(28): Show c.391-17286_391-17278dupCTCTCTCTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42056326	T T	TTTTTTAT others(2): Show TTTTTTATTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp2 HG02572.hp2 others(5): Show HG01175.hp2 HG02109.hp2 HG02572.hp2 HG02886.hp2 HG03453.hp1 HG03486.hp1 NA19086.hp2 NA19090.hp2	a0004 a0005 a0007 others(3): Show a0004 a0005 a0007 a0008 a0027 a0028	a0004c0004 a0005c0005 a0007c0009 others(3): Show a0004c0004 a0005c0005 a0007c0009 a0008c0006 a0027c0026 a0028c0027	a0004c0004t0005 a0005c0005t0006 a0007c0009t0025 others(3): Show a0004c0004t0005 a0005c0005t0006 a0007c0009t0025 a0008c0006t0010 a0027c0026t0020 a0028c0027t0005	a0004c0004t0005g0032 a0004c0004t0005g0034 a0005c0005t0006g0073 others(5): Show a0004c0004t0005g0032 a0004c0004t0005g0034 a0005c0005t0006g0073 a0007c0009t0025g0037 a0008c0006t0010g0070 a0008c0006t0010g0071 a0027c0026t0020g0027 a0028c0027t0005g0033	8	108	0.0741	9	c.390 others(28): Show c.390+20542_390+20543insTAATAAAAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42075836	C C	CTTATTAT others(2): Show CTTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp1 others(21): Show HG00099.hp2 HG00140.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01934.hp1 HG01943.hp2 HG02056.hp2 HG02083.hp1 HG02145.hp2 HG02717.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 NA18949.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0009 a0010 a0011 a0013 a0023 a0030 a0033	a0001c0001 a0001c0012 a0001c0042 others(11): Show a0001c0001 a0001c0012 a0001c0042 a0002c0002 a0003c0003 a0006c0007 a0009c0008 a0010c0013 a0011c0037 a0011c0040 a0013c0021 a0023c0028 a0030c0035 a0033c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0012t0002 a0001c0042t0013 a0002c0002t0012 a0003c0003t0008 a0006c0007t0011 a0009c0008t0009 a0010c0013t0003 a0011c0037t0007 a0011c0040t0007 a0013c0021t0027 a0023c0028t0006 a0030c0035t0007 a0033c0036t0007	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(21): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0042t0013g0001 a0002c0002t0012g0043 a0003c0003t0008g0077 a0006c0007t0011g0017 a0009c0008t0009g0105 a0009c0008t0009g0106 a0009c0008t0009g0107 a0010c0013t0003g0108 a0011c0037t0007g0008 a0011c0040t0007g0003 a0013c0021t0027g0064 a0023c0028t0006g0084 a0030c0035t0007g0023 a0033c0036t0007g0010	24	108	0.2222	9	c.390 others(26): Show c.390+1024_390+1032dupTAATAATAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76334176	T T	TATAATAA others(2): Show TATAATAATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02723.hp2 others(3): Show HG02486.hp1 HG02647.hp2 HG02723.hp2 HG02922.hp2 HG03139.hp2 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0014 a0003c0003 a0002c0002 a0002c0014 a0003c0003	a0002c0002t0002 a0002c0002t0023 a0002c0014t0013 others(2): Show a0002c0002t0002 a0002c0002t0023 a0002c0014t0013 a0003c0003t0005 a0003c0003t0006	a0002c0002t0002g0212 a0002c0002t0023g0265 a0002c0014t0013g0263 others(3): Show a0002c0002t0002g0212 a0002c0002t0023g0265 a0002c0014t0013g0263 a0003c0003t0005g0266 a0003c0003t0006g0045 a0003c0003t0006g0264	6	274	0.0219	9	c.196 others(28): Show c.196+17673_196+17681dupTAATAATAA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76374751	T T	TTATTATT others(2): Show TTATTATTAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02056.hp1 HG02257.hp1 others(1): Show HG01074.hp2 HG02056.hp1 HG02257.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0177 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0177 a0001c0001t0003g0124	4	274	0.0146	9	c.390 others(28): Show c.390+19248_390+19249insGTATTATTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124084924	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02922.hp2 others(3): Show HG01891.hp2 HG02257.hp1 HG02922.hp2 HG03471.hp1 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0003c0007t0001	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0001g0005 others(3): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0001g0005 a0001c0002t0001g0059 a0001c0002t0002g0030 a0003c0007t0001g0017	6	64	0.0938	9	c.82+ others(26): Show c.82+59199_82+59207dupTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419153	A A	AAAAAAAA others(2): Show AAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02897.hp2 others(4): Show HG02723.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03225.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0007 a0001c0002t0019	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(4): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0003g0006 a0001c0002t0001g0007 a0001c0002t0007g0009 a0001c0002t0019g0051	7	64	0.1094	9	c.529 others(26): Show c.529+1571_529+1572insCAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419988	C C	CTTTCTTT others(2): Show CTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03486.hp1 NA18906.hp2 others(2): Show HG02698.hp1 HG03486.hp1 NA18906.hp2 NA19000.hp1 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0004c0006t0001	a0001c0001t0002g0027 a0001c0001t0004g0053 a0001c0002t0001g0016 others(2): Show a0001c0001t0002g0027 a0001c0001t0004g0053 a0001c0002t0001g0016 a0001c0002t0002g0034 a0004c0006t0001g0013	5	64	0.0781	9	c.529 others(26): Show c.529+2401_529+2402insCTTTCTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124448269	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp1 HG02293.hp1 others(5): Show HG00423.hp2 HG01070.hp1 HG02293.hp1 HG02717.hp2 HG02886.hp2 HG03098.hp1 HG03130.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0004g0052 a0001c0002t0001g0063 a0001c0002t0008g0058	8	64	0.1250	9	c.918 others(26): Show c.918+1356_918+1364dupTAATAATAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124629936	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03704.hp1 NA19000.hp2 others(1): Show HG00423.hp2 HG03704.hp1 NA19000.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0006t0001	a0001c0001t0001g0010 a0001c0001t0002g0048 a0001c0002t0001g0064 others(1): Show a0001c0001t0001g0010 a0001c0001t0002g0048 a0001c0002t0001g0064 a0004c0006t0001g0013	4	64	0.0625	9	c.187 others(30): Show c.1877-17811_1877-17803dupAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124647155	A A	ATCTCTAT others(2): Show ATCTCTATGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01069.hp1 others(22): Show HG00423.hp1 HG00423.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG02257.hp1 HG02451.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03704.hp1 NA18906.hp1 NA19000.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0002c0004t0001 a0003c0007t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0003g0006 a0001c0001t0003g0057 a0001c0001t0015g0036 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0002g0031 a0001c0002t0003g0004 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0011g0029 a0001c0002t0012g0018 a0001c0002t0016g0055 a0002c0004t0001g0001 a0003c0007t0001g0017 a0004c0006t0001g0013	25	64	0.3906	9	c.187 others(26): Show c.1877-600_1877-599insCTATGCTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706746	C C	CAAGAAGA others(2): Show CAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp2 NA19043.hp1 others(1): Show HG03130.hp2 HG03471.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0002t0011 a0001c0002t0012 others(1): Show a0001c0001t0004 a0001c0002t0011 a0001c0002t0012 a0002c0004t0001	a0001c0001t0004g0052 a0001c0002t0011g0029 a0001c0002t0012g0018 others(1): Show a0001c0001t0004g0052 a0001c0002t0011g0029 a0001c0002t0012g0018 a0002c0004t0001g0001	4	64	0.0625	9	c.207 others(30): Show c.2078-40440_2078-40432dupAAGAAGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707140	G G	GGAAGAAG others(2): Show GGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp2 HG02451.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0064 a0001c0002t0004g0044 a0001c0002t0001g0064 a0001c0002t0004g0044	2	64	0.0313	9	c.207 others(30): Show c.2078-40031_2078-40023dupGAAGAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124724144	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 HG02970.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0052 a0001c0001t0013g0041 a0001c0001t0004g0052 a0001c0001t0013g0041	2	64	0.0313	9	c.207 others(30): Show c.2078-23060_2078-23052dupAATAATAAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124724175	A A	AATAATAA others(2): Show AATAATAATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp1 HG03453.hp1 others(1): Show HG02723.hp1 HG02886.hp1 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0006 a0001c0001t0003g0057 a0001c0002t0003g0004 others(1): Show a0001c0001t0003g0006 a0001c0001t0003g0057 a0001c0002t0003g0004 a0001c0002t0003g0056	4	64	0.0625	9	c.207 others(30): Show c.2078-23052_2078-23051insAATAATGAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164708329	A A	AAGTGATC others(2): Show AAGTGATCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01175.hp1 others(44): Show HG00140.hp1 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03831.hp1 HG04228.hp1 NA18522.hp1 NA18965.hp1 NA19043.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0009 a0010 a0020 a0021	a0001c0001 a0001c0002 a0001c0010 others(7): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0003c0007 a0004c0005 a0009c0034 a0010c0027 a0020c0026 a0021c0013	a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 others(24): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 a0001c0001t0029 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0019 a0001c0002t0021 a0001c0002t0034 a0001c0002t0046 a0001c0002t0049 a0001c0002t0051 a0001c0002t0062 a0001c0010t0048 a0001c0012t0001 a0003c0007t0006 a0003c0007t0061 a0004c0005t0009 a0004c0005t0015 a0009c0034t0032 a0010c0027t0010 a0020c0026t0008 a0021c0013t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0074 others(44): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0074 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0014g0019 a0001c0001t0017g0206 a0001c0001t0017g0208 a0001c0001t0029g0179 a0001c0001t0050g0020 a0001c0002t0001g0051 a0001c0002t0002g0165 a0001c0002t0005g0158 a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0010g0178 a0001c0002t0013g0028 a0001c0002t0013g0053 a0001c0002t0013g0182 a0001c0002t0019g0152 a0001c0002t0021g0004 a0001c0002t0021g0006 a0001c0002t0034g0034 a0001c0002t0046g0016 a0001c0002t0049g0005 a0001c0002t0051g0003 a0001c0002t0062g0023 a0001c0010t0048g0185 a0001c0012t0001g0014 a0003c0007t0006g0048 a0003c0007t0006g0050 a0003c0007t0061g0049 a0004c0005t0009g0197 a0004c0005t0009g0198 a0004c0005t0009g0199 a0004c0005t0009g0200 a0004c0005t0015g0110 a0004c0005t0015g0184 a0009c0034t0032g0024 a0010c0027t0010g0166 a0020c0026t0008g0033 a0021c0013t0002g0116	47	212	0.2217	9	c.997 others(26): Show c.997-3225_997-3224insCAGATCACT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	7/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164799019	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00609.hp2 others(24): Show HG00099.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02630.hp1 HG02717.hp2 HG02897.hp1 HG03130.hp1 HG03471.hp1 HG03579.hp1 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18972.hp1 NA19030.hp2 NA19056.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0017	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0030 a0004c0005 a0017c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0040 a0001c0002t0004 a0001c0002t0008 a0001c0010t0048 a0002c0003t0003 a0002c0003t0023 a0002c0030t0022 a0004c0005t0009 a0004c0005t0015 a0017c0019t0001	a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 others(23): Show a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0002g0074 a0001c0001t0005g0193 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0040g0082 a0001c0002t0004g0191 a0001c0002t0008g0175 a0001c0010t0048g0185 a0002c0003t0003g0073 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0100 a0002c0003t0023g0001 a0002c0030t0022g0172 a0004c0005t0009g0200 a0004c0005t0015g0184 a0017c0019t0001g0086	27	212	0.1274	9	c.41+ others(26): Show c.41+42128_41+42136dupTTTTTTTTT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018891	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG03710.hp2 others(3): Show HG00642.hp1 HG00735.hp2 HG03710.hp2 NA18963.hp2 NA18979.hp2 NA19010.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0009	a0002c0003 a0003c0001 a0004c0009 others(1): Show a0002c0003 a0003c0001 a0004c0009 a0009c0012	a0002c0003t0001 a0003c0001t0001 a0004c0009t0001 others(1): Show a0002c0003t0001 a0003c0001t0001 a0004c0009t0001 a0009c0012t0001	a0002c0003t0001g0112 a0003c0001t0001g0034 a0004c0009t0001g0005 others(3): Show a0002c0003t0001g0112 a0003c0001t0001g0034 a0004c0009t0001g0005 a0009c0012t0001g0188 a0009c0012t0001g0189 a0009c0012t0001g0194	6	230	0.0261	9	c.376 others(28): Show c.3769-1332_3769-1324dupTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51058554	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01255.hp1 others(5): Show HG00733.hp1 HG01074.hp2 HG01255.hp1 HG01433.hp1 HG03041.hp1 HG04199.hp2 HG04204.hp2 NA18964.hp2	a0001 a0003 a0011 others(3): Show a0001 a0003 a0011 a0027 a0028 a0031	a0001c0004 a0003c0001 a0003c0011 others(4): Show a0001c0004 a0003c0001 a0003c0011 a0011c0014 a0027c0045 a0028c0043 a0031c0041	a0001c0004t0007 a0003c0001t0002 a0003c0011t0001 others(5): Show a0001c0004t0007 a0003c0001t0002 a0003c0011t0001 a0003c0011t0002 a0011c0014t0003 a0027c0045t0003 a0028c0043t0001 a0031c0041t0002	a0001c0004t0007g0045 a0003c0001t0002g0054 a0003c0011t0001g0012 others(5): Show a0001c0004t0007g0045 a0003c0001t0002g0054 a0003c0011t0001g0012 a0003c0011t0002g0069 a0011c0014t0003g0162 a0027c0045t0003g0026 a0028c0043t0001g0201 a0031c0041t0002g0140	8	230	0.0348	9	c.109 others(30): Show c.1097-14871_1097-14863dupGTTGTTGTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COG3_chr13_45459939_45541701	45489262	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01943.hp2 others(8): Show HG00099.hp1 HG01167.hp2 HG01943.hp2 HG02698.hp2 HG02735.hp1 HG02896.hp1 HG03654.hp2 NA18951.hp2 NA18982.hp1 NA18984.hp2 NA18997.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0072 others(8): Show a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0131 a0002c0005t0001g0313	11	342	0.0322	9	c.925 others(26): Show c.925-1643_925-1635dupAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45497784	T T	TCAACAAC others(2): Show TCAACAACAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(116): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19067.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0008 others(8): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0002c0003 a0002c0005 a0002c0007 a0002c0012 a0005c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0001c0014t0001 a0002c0003t0002 a0002c0005t0012 a0002c0007t0002 a0002c0012t0001 a0005c0019t0001	a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0045 others(114): Show a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0239 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0006g0064 a0001c0001t0008g0051 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0272 a0001c0002t0001g0278 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0009g0279 a0001c0008t0001g0042 a0001c0008t0001g0121 a0001c0010t0001g0128 a0001c0011t0001g0246 a0001c0014t0001g0261 a0002c0003t0002g0007 a0002c0003t0002g0170 a0002c0003t0002g0182 a0002c0003t0002g0202 a0002c0003t0002g0209 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0222 a0002c0003t0002g0231 a0002c0003t0002g0240 a0002c0005t0012g0148 a0002c0007t0002g0223 a0002c0007t0002g0225 a0002c0007t0002g0232 a0002c0012t0001g0103 a0005c0019t0001g0070	119	342	0.3480	9	c.148 others(28): Show c.1488+1500_1488+1508dupCAACAACAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45525634	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(53): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02132.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18955.hp1 NA18962.hp2 NA18991.hp2 NA19002.hp2 NA19011.hp2 NA19043.hp2 NA19067.hp2 NA19077.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0011 a0002c0003 others(2): Show a0001c0002 a0001c0011 a0002c0003 a0002c0005 a0003c0006	a0001c0002t0001 a0001c0011t0001 a0002c0003t0002 others(3): Show a0001c0002t0001 a0001c0011t0001 a0002c0003t0002 a0002c0005t0003 a0003c0006t0004 a0003c0006t0015	a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0245 others(51): Show a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0245 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0310 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0331 a0001c0011t0001g0246 a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0144 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0177 a0002c0003t0002g0179 a0002c0003t0002g0184 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0207 a0002c0003t0002g0240 a0002c0005t0003g0151 a0002c0005t0003g0153 a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0005t0003g0192 a0003c0006t0004g0193 a0003c0006t0004g0195 a0003c0006t0004g0196 a0003c0006t0004g0198 a0003c0006t0004g0201 a0003c0006t0015g0200	56	342	0.1637	9	c.223 others(26): Show c.2230+593_2230+601dupTTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG01243.hp2 others(32): Show HG00140.hp2 HG00621.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG02055.hp1 HG02056.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18988.hp2 NA18993.hp2 NA18998.hp2 NA19065.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0003g0019 a0001c0001t0003g0187 a0001c0001t0004g0122 a0001c0001t0004g0123 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0177	35	370	0.0946	9	c.-40 others(20): Show c.-4050_-4049insTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39684243	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00621.hp1 others(33): Show HG00323.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01167.hp1 HG01168.hp1 HG01261.hp2 HG01517.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02165.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA18952.hp2 NA18955.hp1 NA18986.hp2 NA18988.hp1 NA18997.hp1 NA19000.hp2 NA19002.hp2 NA19010.hp2 NA19072.hp2 NA19085.hp2 NA20752.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(2): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009	a0002c0002t0002g0230 a0002c0002t0002g0236 a0002c0002t0002g0239 others(33): Show a0002c0002t0002g0230 a0002c0002t0002g0236 a0002c0002t0002g0239 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0275 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0304 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0325 a0002c0002t0002g0327 a0002c0002t0002g0334 a0002c0002t0002g0343 a0002c0002t0002g0345 a0002c0002t0002g0351 a0002c0002t0002g0354 a0002c0002t0006g0231 a0002c0002t0007g0355 a0002c0002t0008g0241 a0002c0002t0008g0242 a0002c0002t0008g0243 a0002c0002t0008g0335 a0002c0002t0009g0276 a0002c0002t0009g0277 a0002c0002t0009g0278	36	370	0.0973	9	c.788 others(26): Show c.788+1996_788+2004dupTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23451338	C C	CTGTGAAT others(2): Show CTGTGAATCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02630.hp2 HG02109.hp2 HG02486.hp1 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0003 a0003c0005t0003 a0001c0003t0003 a0003c0005t0003	a0001c0003t0003g0133 a0001c0003t0003g0134 a0003c0005t0003g0135 a0001c0003t0003g0133 a0001c0003t0003g0134 a0003c0005t0003g0135	3	272	0.0110	9	c.169 others(26): Show c.169+1487_169+1488insTGATTCACA	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	1/16			chr16	TogoVar
COL11A1_chr1_102871473_103113522	102967227	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02055.hp2 HG03098.hp1 others(6): Show HG00408.hp2 HG02055.hp2 HG03098.hp1 HG03704.hp2 HG03927.hp2 NA18942.hp2 NA18955.hp2 NA18966.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0016	a0001c0002 a0001c0005 a0002c0024 others(3): Show a0001c0002 a0001c0005 a0002c0024 a0003c0023 a0007c0015 a0016c0027	a0001c0002t0003 a0001c0005t0005 a0002c0024t0002 others(3): Show a0001c0002t0003 a0001c0005t0005 a0002c0024t0002 a0003c0023t0002 a0007c0015t0005 a0016c0027t0005	a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0005t0005g0061 others(6): Show a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0005t0005g0061 a0001c0005t0005g0071 a0002c0024t0002g0075 a0003c0023t0002g0079 a0007c0015t0005g0112 a0007c0015t0005g0114 a0016c0027t0005g0076	9	184	0.0489	9	c.286 others(28): Show c.2863-1696_2863-1688dupAAAAAAAAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	37/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102991440	C C	CACGTGAT others(2): Show CACGTGATCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(39): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00621.hp2 HG00639.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02300.hp1 HG02683.hp2 HG02809.hp1 HG03239.hp1 HG03710.hp2 HG03927.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18955.hp1 NA18966.hp1 NA18977.hp2 NA18984.hp2 NA18985.hp2 NA18998.hp1 NA19057.hp2 NA19063.hp1 NA19075.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0002 a0003 a0012 others(1): Show a0002 a0003 a0012 a0014	a0002c0001 a0003c0003 a0012c0035 others(1): Show a0002c0001 a0003c0003 a0012c0035 a0014c0036	a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 others(3): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0003c0003t0002 a0012c0035t0001 a0014c0036t0001	a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0121 others(39): Show a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0134 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0181 a0002c0001t0002g0136 a0002c0001t0009g0146 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0165 a0012c0035t0001g0166 a0014c0036t0001g0118	42	184	0.2283	9	c.234 others(28): Show c.2341-1878_2341-1870dupAGATCACGT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	28/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103070209	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02300.hp2 HG03041.hp1 others(1): Show HG00140.hp2 HG02300.hp2 HG03041.hp1 HG03704.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0016 a0003c0011 a0011c0037 a0001c0016 a0003c0011 a0011c0037	a0001c0016t0001 a0003c0011t0001 a0011c0037t0001 a0001c0016t0001 a0003c0011t0001 a0011c0037t0001	a0001c0016t0001g0102 a0003c0011t0001g0044 a0003c0011t0001g0060 others(1): Show a0001c0016t0001g0102 a0003c0011t0001g0044 a0003c0011t0001g0060 a0011c0037t0001g0103	4	184	0.0217	9	c.651 others(26): Show c.651+4400_651+4408dupATTATTATT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL11A2_chr6_33157694_33197467	33190072	T T	TTCAAGCA others(2): Show TTCAAGCAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01081.hp2 others(10): Show HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01358.hp2 HG02080.hp2 HG02572.hp2 HG02698.hp1 HG03490.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0146 a0006c0011t0001g0026	13	367	0.0354	9	c.83- others(22): Show c.83-612_83-604dupGCTGCTTGA	COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	1/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75210372	A A	AGGAAACT others(2): Show AGGAAACTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01891.hp1 others(27): Show HG00408.hp1 HG00673.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18988.hp1 NA18994.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0010 a0011 a0020 a0028 a0029 a0030	a0001c0001 a0001c0038 a0002c0002 others(9): Show a0001c0001 a0001c0038 a0002c0002 a0002c0054 a0003c0003 a0010c0014 a0011c0049 a0011c0051 a0020c0030 a0028c0053 a0029c0052 a0030c0050	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0038t0004 a0002c0002t0001 a0002c0054t0003 a0003c0003t0003 a0010c0014t0002 a0010c0014t0005 a0011c0049t0003 a0011c0051t0007 a0020c0030t0020 a0028c0053t0007 a0029c0052t0008 a0030c0050t0010	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018 others(27): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0002g0017 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0019 a0001c0038t0004g0023 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0054t0003g0193 a0003c0003t0003g0156 a0010c0014t0002g0196 a0010c0014t0005g0197 a0011c0049t0003g0166 a0011c0051t0007g0194 a0020c0030t0020g0202 a0028c0053t0007g0199 a0029c0052t0008g0198 a0030c0050t0010g0195	30	206	0.1456	9	c.-46 others(20): Show c.-4632_-4631insATAGTTTCC	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		4320		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69858115	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp2 others(39): Show HG00140.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01175.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01952.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02922.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp2 NA20805.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0008 a0005c0012 a0006c0033 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0006t0002 a0001c0007t0003 a0002c0008t0001 a0005c0012t0001 a0006c0033t0001 a0011c0022t0010	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0010 a0001c0001t0002g0051 a0001c0001t0002g0078 a0001c0001t0007g0006 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0178 a0001c0002t0001g0211 a0001c0002t0001g0271 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0324 a0001c0002t0002g0323 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0262 a0001c0002t0004g0295 a0001c0002t0015g0253 a0001c0004t0002g0155 a0001c0004t0002g0283 a0001c0004t0002g0322 a0001c0004t0003g0258 a0001c0004t0005g0270 a0001c0006t0002g0069 a0001c0007t0003g0182 a0002c0008t0001g0110 a0005c0012t0001g0026 a0006c0033t0001g0225 a0011c0022t0010g0232	42	324	0.1296	9	c.365 others(26): Show c.365-9671_365-9663dupAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120224023	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01106.hp2 others(55): Show HG00438.hp2 HG00544.hp1 HG01106.hp2 HG01169.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01943.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp1 NA19090.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0024 a0002c0002 a0002c0016 a0002c0032 a0002c0036 a0003c0004 a0004c0008 a0004c0009 a0010c0022 a0011c0025 a0012c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0016 a0001c0005t0005 a0001c0013t0004 a0001c0014t0004 a0001c0014t0012 a0001c0024t0003 a0002c0002t0001 a0002c0002t0003 a0002c0016t0003 a0002c0032t0002 a0002c0036t0001 a0003c0004t0001 a0004c0008t0001 a0004c0009t0007 a0010c0022t0001 a0011c0025t0001 a0012c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0003g0043 a0001c0001t0003g0093 a0001c0001t0003g0102 a0001c0001t0003g0149 a0001c0003t0001g0064 a0001c0003t0001g0089 a0001c0003t0001g0095 a0001c0003t0001g0125 a0001c0003t0001g0182 a0001c0003t0001g0192 a0001c0003t0002g0122 a0001c0003t0003g0088 a0001c0003t0003g0172 a0001c0003t0016g0138 a0001c0005t0005g0141 a0001c0013t0004g0085 a0001c0014t0004g0009 a0001c0014t0012g0026 a0001c0024t0003g0104 a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0120 a0002c0002t0001g0156 a0002c0002t0001g0164 a0002c0002t0001g0181 a0002c0002t0003g0193 a0002c0016t0003g0152 a0002c0032t0002g0059 a0002c0036t0001g0004 a0003c0004t0001g0199 a0004c0008t0001g0105 a0004c0009t0007g0161 a0010c0022t0001g0135 a0011c0025t0001g0157 a0012c0023t0001g0038	58	218	0.2661	9	c.173 others(28): Show c.1738-1052_1738-1044dupTTTTTTTTT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(2): Show TTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01070.hp1 others(20): Show HG00597.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01981.hp2 HG03195.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG06807.hp1 NA18969.hp2 NA19077.hp1 NA19079.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0011 a0020	a0001c0020 a0002c0002 a0002c0004 others(4): Show a0001c0020 a0002c0002 a0002c0004 a0002c0012 a0008c0049 a0011c0021 a0020c0034	a0001c0020t0004 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0020t0004 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0012t0001 a0008c0049t0005 a0011c0021t0005 a0020c0034t0001	a0001c0020t0004g0036 a0002c0002t0001g0152 a0002c0002t0001g0169 others(19): Show a0001c0020t0004g0036 a0002c0002t0001g0152 a0002c0002t0001g0169 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0153 a0002c0002t0002g0158 a0002c0002t0002g0162 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0004t0001g0168 a0002c0004t0002g0173 a0002c0012t0001g0017 a0008c0049t0005g0296 a0011c0021t0005g0294 a0011c0021t0005g0295 a0020c0034t0001g0183	23	342	0.0673	9	c.-35 others(20): Show c.-3584_-3583insGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45485149	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG02004.hp2 others(10): Show HG00597.hp2 HG00609.hp2 HG02004.hp2 HG02055.hp1 HG02129.hp2 HG02135.hp1 HG02602.hp2 HG03017.hp2 HG04204.hp2 NA18961.hp2 NA18969.hp2 NA19010.hp1 NA19074.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0007 a0001c0025 others(3): Show a0001c0003 a0001c0007 a0001c0025 a0001c0033 a0001c0053 a0006c0026	a0001c0003t0001 a0001c0003t0003 a0001c0007t0002 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0007t0002 a0001c0025t0002 a0001c0033t0002 a0001c0053t0001 a0006c0026t0001	a0001c0003t0001g0043 a0001c0003t0001g0101 a0001c0003t0001g0181 others(10): Show a0001c0003t0001g0043 a0001c0003t0001g0101 a0001c0003t0001g0181 a0001c0003t0001g0254 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0007t0002g0078 a0001c0007t0002g0161 a0001c0007t0002g0194 a0001c0025t0002g0159 a0001c0033t0002g0169 a0001c0053t0001g0244 a0006c0026t0001g0083	13	292	0.0445	9	c.170 others(28): Show c.1702-1689_1702-1681dupTTTTTTTTT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar

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